E96A (p.Glu96Ala) variant of OCA2 (P protein)
E96A (p.Glu96Ala) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of OCA2-related disorder; Oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BL. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E96A (p.Glu96Ala) variant details
- p.Glu96Ala
- rs748287294
- ClinGen CA7439528
- ClinVar RCV003058454
- ClinVar RCV003331419
- Pathogenic/Likely pathogenic
- OCA2-related disorder; Oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BL
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.91
- MetaSVM 1.19
- CADD 25.10
- ClinVar: Pathogenic/Likely pathogenic (OCA2-related disorder; Oculocutaneous albinism; SKIN/HAIR/EYE PI)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)