C40S (p.Cys40Ser) variant of KRT16 (Keratin, type I cytoskeletal 16)
C40S (p.Cys40Ser) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
C40S (p.Cys40Ser) variant details
- p.Cys40Ser
- gnomAD rs1271086138
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.16
- CADD 21.90
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available