I20S (p.Ile20Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
I20S (p.Ile20Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I20S (p.Ile20Ser) variant details
- p.Ile20Ser
- gnomAD rs1189537125
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.39
- CADD 20.60
- PolyPhen-2 0.03
- SIFT 0.46
- Most common in the South Asian population (allele frequency 8.4e-05)
- Structural context available