S12N (p.Ser12Asn) variant of KRT17 (Keratin, type I cytoskeletal 17)
S12N (p.Ser12Asn) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- Ensembl rs1908661638
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.22
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available