R37P (p.Arg37Pro) variant of ABCD1 (P33897)
R37P (p.Arg37Pro) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
R37P (p.Arg37Pro) variant details
- p.Arg37Pro
- rs1257848735
- ClinGen CA415097589
- ClinVar RCV003489510
- TOPMed rs1257848735
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.11
- MetaLR 0.53
- MetaSVM 0.04
- PolyPhen-2 0.95
- SIFT 0.06
- MutPred 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available