S93R (p.Ser93Arg) variant of KRT12 (Keratin, type I cytoskeletal 12)
S93R (p.Ser93Arg) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S93R (p.Ser93Arg) variant details
- p.Ser93Arg
- 1000Genomes rs532861831
- ExAC rs532861831
- gnomAD rs532861831
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.20
- CADD 7.87
- PolyPhen-2 0.04
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available