S78T (p.Ser78Thr) variant of KRT14 (Keratin, type I cytoskeletal 14)
S78T (p.Ser78Thr) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S78T (p.Ser78Thr) variant details
- p.Ser78Thr
- gnomAD rs1336609835
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.29
- CADD 14.20
- PolyPhen-2 0.39
- SIFT 0.39
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available