T12K (p.Thr12Lys) variant of PHF6 (PHD finger protein 6)
T12K (p.Thr12Lys) 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 0.40 / 1. The record also includes population frequency data and structural context.
T12K (p.Thr12Lys) variant details
- p.Thr12Lys
- rs1569334235
- Ensembl rs1569334235
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.24
- CADD 18.10
- PolyPhen-2 0.02
- SIFT 0.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available