V5A (p.Val5Ala) variant of PHF6 (PHD finger protein 6)
V5A (p.Val5Ala) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- cosmic curated COSV10610
- ExAC rs748760985
- TOPMed rs748760985
- gnomAD rs748760985
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.16
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the REMAINING population (allele frequency 0.00067)
- Structural context available