L611P (p.Leu611Pro) variant of OCA2 (P protein)
L611P (p.Leu611Pro) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L611P (p.Leu611Pro) variant details
- p.Leu611Pro
- rs766188851
- ClinGen CA7438893
- ClinVar RCV003471626
- ClinVar RCV003732594
- Pathogenic
- not provided; Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENT
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.80
- CADD 26.80
- ClinVar: Pathogenic (not provided; Tyrosinase-positive oculocutaneous albinism; SKIN/)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00018)
- 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)