R30L (p.Arg30Leu) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R30L (p.Arg30Leu) in KRT6A (Keratin, type II cytoskeletal 6A) 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.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- TOPMed rs1308335675
- gnomAD rs1308335675
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.23
- CADD 17.00
- PolyPhen-2 0.05
- SIFT 0.06
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available