M83del (p.Met83del) variant of CHD7 (Q9P2D1)
M83del (p.Met83del) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M83del (p.Met83del) variant details
- gnomAD 8-60741676-CTGA-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 18.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available