P17S (p.Pro17Ser) variant of KRT8 (Keratin, type II cytoskeletal 8)
P17S (p.Pro17Ser) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- rs754652686
- ClinGen CA6590637
- ClinVar RCV004357943
- ExAC rs754652686
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 22.40
- PolyPhen-2 0.12
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)