I33M (p.Ile33Met) variant of PHF6 (PHD finger protein 6)
I33M (p.Ile33Met) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I33M (p.Ile33Met) variant details
- p.Ile33Met
- gnomAD X-134377716-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.22
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available