I5V (p.Ile5Val) variant of KRT17 (Keratin, type I cytoskeletal 17)
I5V (p.Ile5Val) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I5V (p.Ile5Val) variant details
- p.Ile5Val
- TOPMed rs1327072340
- gnomAD rs1327072340
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.14
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available