F131I (p.Phe131Ile) variant of KRT10 (Keratin, type I cytoskeletal 10)
F131I (p.Phe131Ile) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar 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 0.19 / 1. The record also includes population frequency data.
F131I (p.Phe131Ile) variant details
- p.Phe131Ile
- ExAC rs775004391
- TOPMed rs775004391
- gnomAD rs775004391
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.20
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)