Q61R (p.Gln61Arg) variant of CHD7 (Q9P2D1)
Q61R (p.Gln61Arg) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q61R (p.Gln61Arg) variant details
- p.Gln61Arg
- gnomAD rs1809018923
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -0.97
- CADD 21.20
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available