V34V (p.Val34Val) variant of CHD7 (Q9P2D1)
V34V (p.Val34Val) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V34V (p.Val34Val) variant details
- p.Val34Val
- rs1170310957
- gnomAD 8-60741534-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 9.61
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.251
- Literature evidence available