S31I (p.Ser31Ile) variant of KRT18 (Keratin, type I cytoskeletal 18)
S31I (p.Ser31Ile) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S31I (p.Ser31Ile) variant details
- p.Ser31Ile
- ESP rs374064321
- ExAC rs374064321
- gnomAD rs374064321
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.54
- CADD 25.40
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available