I5N (p.Ile5Asn) variant of KRT2 (P35908)
I5N (p.Ile5Asn) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I5N (p.Ile5Asn) variant details
- p.Ile5Asn
- Ensembl rs2120957534
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.12
- CADD 14.50
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available