I67V (p.Ile67Val) variant of PHF6 (PHD finger protein 6)
I67V (p.Ile67Val) in PHF6 (PHD finger protein 6) is a missense change. 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.
I67V (p.Ile67Val) variant details
- p.Ile67Val
- TOPMed rs1381833110
- gnomAD rs1381833110
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.85
- SIFT 0.55
- Most common in the Middle Eastern population (allele frequency 0.00026)
- Structural context available