S18S (p.Ser18Ser) variant of CHD7 (Q9P2D1)
S18S (p.Ser18Ser) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- rs2150577330
- gnomAD 8-60741486-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.0653
- Literature evidence available