G70V (p.Gly70Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
G70V (p.Gly70Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G70V (p.Gly70Val) variant details
- p.Gly70Val
- ExAC rs540081758
- TOPMed rs540081758
- gnomAD rs540081758
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.37
- CADD 23.10
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available