S11G (p.Ser11Gly) variant of KRT5 (Keratin, type II cytoskeletal 5)
S11G (p.Ser11Gly) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S11G (p.Ser11Gly) variant details
- p.Ser11Gly
- ExAC rs755664811
- gnomAD rs755664811
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.12
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available