P743L (p.Pro743Leu) variant of OCA2 (P protein)
P743L (p.Pro743Leu) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Albinism or congenital nystagmus; OCA2-related disorder; Oculocutaneous albinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
P743L (p.Pro743Leu) variant details
- p.Pro743Leu
- rs121918167
- ClinGen CA251635
- cosmic curated COSV10466
- ClinVar RCV000001007
- Uncertain significance
- Albinism or congenital nystagmus; OCA2-related disorder; Oculocutaneous albinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.95
- MetaSVM 1.10
- CADD 31.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Pathogenic (in OCA2 and unclassified OCA)
- UniProt: Pathogenic (in OCA2 and unclassified OCA)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. (PMID 10649493)
- Cited in: MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). (PMID 12876664)