A26S (p.Ala26Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
A26S (p.Ala26Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- gnomAD 12-52949249-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.04
- CADD 8.08
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available