H46R (p.His46Arg) variant of ID3 (Q02535)
H46R (p.His46Arg) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
H46R (p.His46Arg) variant details
- p.His46Arg
- ExAC rs753180704
- TOPMed rs753180704
- gnomAD rs753180704
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.41
- MetaLR 0.76
- MetaSVM 0.38
- CADD 24.30
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available