S28P (p.Ser28Pro) variant of KRT14 (Keratin, type I cytoskeletal 14)
S28P (p.Ser28Pro) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S28P (p.Ser28Pro) variant details
- p.Ser28Pro
- Ensembl rs200941154
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.54
- CADD 25.00
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available