S5N (p.Ser5Asn) variant of KRT16 (Keratin, type I cytoskeletal 16)
S5N (p.Ser5Asn) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- gnomAD rs1214203238
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.21
- CADD 21.40
- PolyPhen-2 0.15
- SIFT 0.28
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available