S31R (p.Ser31Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
S31R (p.Ser31Arg) 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, published literature, and structural context.
S31R (p.Ser31Arg) variant details
- p.Ser31Arg
- gnomAD 12-52949266-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.33
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.24
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available