A27G (p.Ala27Gly) variant of KRT2 (P35908)
A27G (p.Ala27Gly) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A27G (p.Ala27Gly) variant details
- p.Ala27Gly
- 1000Genomes rs574869727
- ExAC rs574869727
- gnomAD rs574869727
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.41
- CADD 26.70
- PolyPhen-2 0.76
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available