R37H (p.Arg37His) variant of ABCD1 (P33897)
R37H (p.Arg37His) in ABCD1 (P33897) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R37H (p.Arg37His) variant details
- p.Arg37His
- rs1257848735
- TOPMed rs1257848735
- gnomAD rs1257848735
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.36
- AlphaMissense 0.11
- MetaLR 0.53
- MetaSVM 0.04
- CADD 20.20
- PolyPhen-2 0.95
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 6.2e-05)
- Structural context available