V24M (p.Val24Met) variant of OCA2 (P protein)
V24M (p.Val24Met) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V24M (p.Val24Met) variant details
- p.Val24Met
- rs766829294
- ClinGen CA7439598
- ClinVar RCV002019161
- ExAC rs766829294
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.56
- MetaSVM -0.15
- CADD 8.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available