F22L (p.Phe22Leu) variant of KRT2 (P35908)
F22L (p.Phe22Leu) in KRT2 (P35908) 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 0.45 / 1. The record also includes population frequency data and structural context.
F22L (p.Phe22Leu) variant details
- p.Phe22Leu
- rs756350391
- ClinGen CA6585980
- ClinVar RCV003729801
- ExAC rs756350391
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.35
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available