R40C (p.Arg40Cys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R40C (p.Arg40Cys) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- ESP rs375671619
- ExAC rs375671619
- TOPMed rs375671619
- gnomAD rs375671619
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.46
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available