P193S (p.Pro193Ser) variant of ABCD1 (P33897)
P193S (p.Pro193Ser) in ABCD1 (P33897) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Adrenoleukodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P193S (p.Pro193Ser) variant details
- p.Pro193Ser
- gnomAD rs1557052424
- Uncertain significance
- Adrenoleukodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.90
- AlphaMissense 0.63
- MetaLR 0.99
- MetaSVM 1.00
- CADD 24.80
- PolyPhen-2 0.97
- ClinVar: Uncertain significance (Adrenoleukodystrophy)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available