L52F (p.Leu52Phe) variant of PHF6 (PHD finger protein 6)
L52F (p.Leu52Phe) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- cosmic curated COSV10013
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.68
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available