R3I (p.Arg3Ile) variant of CHD2 (O14647)
R3I (p.Arg3Ile) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R3I (p.Arg3Ile) variant details
- p.Arg3Ile
- TOPMed rs2052524459
- gnomAD rs2052524459
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.45
- MetaLR 0.69
- MetaSVM 0.48
- CADD 25.10
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available