K75R (p.Lys75Arg) variant of PHF6 (PHD finger protein 6)
K75R (p.Lys75Arg) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K75R (p.Lys75Arg) variant details
- p.Lys75Arg
- gnomAD rs1365245358
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.34
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.10
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available