R45K (p.Arg45Lys) variant of KRT1 (Keratin, type II cytoskeletal 1)
R45K (p.Arg45Lys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R45K (p.Arg45Lys) variant details
- p.Arg45Lys
- TOPMed rs1432892108
- gnomAD rs1432892108
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.23
- AlphaMissense 0.13
- MetaLR 0.60
- MetaSVM -0.04
- CADD 16.00
- PolyPhen-2 0.95
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available