R30L (p.Arg30Leu) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R30L (p.Arg30Leu) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- ESP rs374275504
- ExAC rs374275504
- TOPMed rs374275504
- gnomAD rs374275504
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.15
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available