P15Q (p.Pro15Gln) variant of OCA2 (P protein)
P15Q (p.Pro15Gln) 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 0.23 / 1. The record also includes structural context.
P15Q (p.Pro15Gln) variant details
- p.Pro15Gln
- rs201291702
- ClinGen CA391366861
- ClinVar RCV002038255
- 1000Genomes rs201291702
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.59
- CADD 3.06
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available