I74S (p.Ile74Ser) variant of PHF6 (PHD finger protein 6)
I74S (p.Ile74Ser) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
I74S (p.Ile74Ser) variant details
- p.Ile74Ser
- gnomAD X-134378087-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.78
- CADD 27.20
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available