R13K (p.Arg13Lys) variant of PHF6 (PHD finger protein 6)
R13K (p.Arg13Lys) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.42
- CADD 24.00
- PolyPhen-2 0.90
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available