S49S (p.Ser49Ser) variant of PHF6 (PHD finger protein 6)
S49S (p.Ser49Ser) in PHF6 (PHD finger protein 6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S49S (p.Ser49Ser) variant details
- p.Ser49Ser
- rs143039976
- gnomAD X-134378013-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 12.20
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available