H81Q (p.His81Gln) variant of CHD7 (Q9P2D1)
H81Q (p.His81Gln) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H81Q (p.His81Gln) variant details
- p.His81Gln
- gnomAD 8-60741675-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.39
- MetaLR 0.28
- MetaSVM -0.56
- CADD 20.60
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available