S48T (p.Ser48Thr) variant of KRT10 (Keratin, type I cytoskeletal 10)
S48T (p.Ser48Thr) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
S48T (p.Ser48Thr) variant details
- p.Ser48Thr
- ExAC rs766514106
- gnomAD rs766514106
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.16
- CADD 15.80
- PolyPhen-2 0.04
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 1.7e-05)