T4S (p.Thr4Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
T4S (p.Thr4Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T4S (p.Thr4Ser) variant details
- p.Thr4Ser
- ExAC rs76301931
- gnomAD rs76301931
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.11
- CADD 12.80
- PolyPhen-2 0.07
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available