A26T (p.Ala26Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
A26T (p.Ala26Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- cosmic curated COSV66315
- gnomAD rs78514003
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.06
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available