M46V (p.Met46Val) variant of PHF6 (PHD finger protein 6)
M46V (p.Met46Val) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
M46V (p.Met46Val) variant details
- p.Met46Val
- gnomAD X-134377753-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.52
- CADD 25.20
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available