M81L (p.Met81Leu) variant of PHF6 (PHD finger protein 6)
M81L (p.Met81Leu) 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, published literature, and structural context.
M81L (p.Met81Leu) variant details
- p.Met81Leu
- gnomAD X-134393501-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available