Q106R (p.Gln106Arg) variant of OCA2 (P protein)
Q106R (p.Gln106Arg) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q106R (p.Gln106Arg) variant details
- p.Gln106Arg
- gnomAD rs1282448249
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.67
- MetaSVM -0.11
- CADD 17.50
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available