S34P (p.Ser34Pro) variant of PHF6 (PHD finger protein 6)
S34P (p.Ser34Pro) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S34P (p.Ser34Pro) variant details
- p.Ser34Pro
- gnomAD X-134377717-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.66
- CADD 25.60
- PolyPhen-2 0.54
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available