S44A (p.Ser44Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
S44A (p.Ser44Ala) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S44A (p.Ser44Ala) variant details
- p.Ser44Ala
- ExAC rs763522746
- gnomAD rs763522746
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.31
- CADD 21.00
- PolyPhen-2 0.36
- SIFT 0.11
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available