Y95C (p.Tyr95Cys) variant of KRT5 (Keratin, type II cytoskeletal 5)
Y95C (p.Tyr95Cys) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.21 / 1. The record also includes population frequency data and structural context.
Y95C (p.Tyr95Cys) variant details
- p.Tyr95Cys
- gnomAD rs1267955312
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.04
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- Structural context available