Q58R (p.Gln58Arg) variant of OCA2 (P protein)
Q58R (p.Gln58Arg) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
Q58R (p.Gln58Arg) variant details
- p.Gln58Arg
- gnomAD rs1182516404
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.53
- MetaSVM -0.51
- CADD 2.32
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available