R111Q (p.Arg111Gln) variant of OCA2 (P protein)
R111Q (p.Arg111Gln) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R111Q (p.Arg111Gln) variant details
- p.Arg111Gln
- cosmic curated COSV62348
- gnomAD rs2042809169
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.38
- MetaSVM -0.58
- CADD 0.31
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available