A40A (p.Ala40Ala) variant of PHF6 (PHD finger protein 6)
A40A (p.Ala40Ala) in PHF6 (PHD finger protein 6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- gnomAD X-134377737-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available