S33R (p.Ser33Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
S33R (p.Ser33Arg) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S33R (p.Ser33Arg) variant details
- p.Ser33Arg
- ExAC rs746512534
- gnomAD rs746512534
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.35
- CADD 4.67
- PolyPhen-2 0.71
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available