D91F (p.Asp91Phe) variant of OCA2 (P protein)
D91F (p.Asp91Phe) 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 0.26 / 1. The record also includes structural context.
D91F (p.Asp91Phe) variant details
- p.Asp91Phe
- rs2141380377
- ClinGen CA2573150578
- ClinVar RCV002024428
- Ensembl rs2141380377
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- ESM-1b 0.00
- AlphaMissense 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available