L100F (p.Leu100Phe) variant of OCA2 (P protein)
L100F (p.Leu100Phe) 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.
L100F (p.Leu100Phe) variant details
- p.Leu100Phe
- rs2548508257
- ClinGen CA391362969
- ClinVar RCV003574510
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- ESM-1b 0.00
- AlphaMissense 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available