V70I (p.Val70Ile) variant of PHF6 (PHD finger protein 6)
V70I (p.Val70Ile) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V70I (p.Val70Ile) variant details
- p.Val70Ile
- TOPMed rs1179202301
- gnomAD rs1179202301
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.11
- CADD 18.80
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available