S51N (p.Ser51Asn) variant of KRT4 (Keratin, type II cytoskeletal 4)
S51N (p.Ser51Asn) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S51N (p.Ser51Asn) variant details
- p.Ser51Asn
- Ensembl rs1939960862
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.54
- CADD 24.40
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available