A2A (p.Ala2Ala) variant of CHD7 (Q9P2D1)
A2A (p.Ala2Ala) 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.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1331575367
- gnomAD 8-60741438-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.42
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.472
- Literature evidence available