R48K (p.Arg48Lys) variant of KRT5 (Keratin, type II cytoskeletal 5)
R48K (p.Arg48Lys) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R48K (p.Arg48Lys) variant details
- p.Arg48Lys
- TOPMed rs1403548834
- gnomAD rs1403548834
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.18
- CADD 21.10
- PolyPhen-2 0.43
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available