R122G (p.Arg122Gly) variant of KRT2 (P35908)
R122G (p.Arg122Gly) in KRT2 (P35908) 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.
R122G (p.Arg122Gly) variant details
- p.Arg122Gly
- 1000Genomes rs530180060
- TOPMed rs530180060
- gnomAD rs530180060
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.28
- CADD 2.90
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available