R30L (p.Arg30Leu) variant of KRT16 (Keratin, type I cytoskeletal 16)
R30L (p.Arg30Leu) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- 1000Genomes rs765215802
- ExAC rs765215802
- TOPMed rs765215802
- gnomAD rs765215802
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.35
- CADD 21.80
- PolyPhen-2 0.14
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available