S4A (p.Ser4Ala) variant of PHF6 (PHD finger protein 6)
S4A (p.Ser4Ala) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S4A (p.Ser4Ala) variant details
- p.Ser4Ala
- gnomAD X-134377627-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.39
- CADD 23.50
- PolyPhen-2 0.66
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available