S30N (p.Ser30Asn) variant of KRT3 (Keratin, type II cytoskeletal 3)
S30N (p.Ser30Asn) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- Ensembl rs892240804
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.35
- CADD 18.30
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available