S75N (p.Ser75Asn) variant of KRT1 (Keratin, type II cytoskeletal 1)
S75N (p.Ser75Asn) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S75N (p.Ser75Asn) variant details
- p.Ser75Asn
- gnomAD rs1362626391
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.36
- CADD 17.20
- PolyPhen-2 0.35
- SIFT 0.08
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available