G90S (p.Gly90Ser) variant of KRT12 (Keratin, type I cytoskeletal 12)
G90S (p.Gly90Ser) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G90S (p.Gly90Ser) variant details
- p.Gly90Ser
- ExAC rs750956829
- gnomAD rs750956829
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.28
- CADD 22.10
- PolyPhen-2 0.68
- SIFT 0.24
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available