Q14H (p.Gln14His) variant of PHF6 (PHD finger protein 6)
Q14H (p.Gln14His) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q14H (p.Gln14His) variant details
- p.Gln14His
- gnomAD X-134377659-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.38
- CADD 19.80
- PolyPhen-2 0.36
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available