S31C (p.Ser31Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
S31C (p.Ser31Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S31C (p.Ser31Cys) variant details
- p.Ser31Cys
- gnomAD rs1398440164
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.56
- CADD 29.20
- PolyPhen-2 0.68
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available