Q51H (p.Gln51His) variant of CHD7 (Q9P2D1)
Q51H (p.Gln51His) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q51H (p.Gln51His) variant details
- p.Gln51His
- cosmic curated COSV71115
- TOPMed rs1032852484
- gnomAD rs1032852484
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.23
- MetaLR 0.10
- MetaSVM -0.93
- CADD 17.40
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available