Q30V (p.Gln30Val) variant of PHF6 (PHD finger protein 6)
Q30V (p.Gln30Val) in PHF6 (PHD finger protein 6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q30V (p.Gln30Val) variant details
- p.Gln30Val
- rs2077284360
- gnomAD X-134377703-GAC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 27.60
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available