S72N (p.Ser72Asn) variant of KRT9 (Keratin, type I cytoskeletal 9)
S72N (p.Ser72Asn) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S72N (p.Ser72Asn) variant details
- p.Ser72Asn
- gnomAD rs1471930587
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.24
- CADD 9.39
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available