S27R (p.Ser27Arg) variant of KRT3 (Keratin, type II cytoskeletal 3)
S27R (p.Ser27Arg) in KRT3 (Keratin, type II cytoskeletal 3) 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.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- ExAC rs770436470
- gnomAD rs770436470
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.32
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available