N60N (p.Asn60Asn) variant of CHD7 (Q9P2D1)
N60N (p.Asn60Asn) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N60N (p.Asn60Asn) variant details
- p.Asn60Asn
- rs1177428151
- gnomAD 8-60741612-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 7.79
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available