K5E (p.Lys5Glu) variant of CHD2 (O14647)
K5E (p.Lys5Glu) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- gnomAD 15-92904917-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 16.20
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available