V115I (p.Val115Ile) variant of OCA2 (P protein)
V115I (p.Val115Ile) 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.
V115I (p.Val115Ile) variant details
- p.Val115Ile
- gnomAD rs1314312278
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.60
- MetaSVM -0.49
- CADD 0.48
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available