S29L (p.Ser29Leu) variant of CHD2 (O14647)
S29L (p.Ser29Leu) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S29L (p.Ser29Leu) variant details
- p.Ser29Leu
- ExAC rs752343848
- TOPMed rs752343848
- gnomAD rs752343848
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.31
- MetaLR 0.53
- MetaSVM 0.13
- CADD 24.90
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available