G47S (p.Gly47Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
G47S (p.Gly47Ser) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G47S (p.Gly47Ser) variant details
- p.Gly47Ser
- ESP rs144480716
- ExAC rs144480716
- TOPMed rs144480716
- gnomAD rs144480716
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.13
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available