Q9K (p.Gln9Lys) variant of CHD2 (O14647)
Q9K (p.Gln9Lys) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q9K (p.Gln9Lys) variant details
- p.Gln9Lys
- ExAC rs755568618
- gnomAD rs755568618
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.20
- MetaLR 0.47
- MetaSVM -0.35
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available