S30A (p.Ser30Ala) variant of KRT13 (Keratin, type I cytoskeletal 13)
S30A (p.Ser30Ala) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S30A (p.Ser30Ala) variant details
- p.Ser30Ala
- gnomAD rs1457080671
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.18
- CADD 23.00
- PolyPhen-2 0.77
- SIFT 0.41
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available