S49T (p.Ser49Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
S49T (p.Ser49Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S49T (p.Ser49Thr) variant details
- p.Ser49Thr
- gnomAD 12-52949318-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.27
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available