A133V (p.Ala133Val) variant of CHM (P24386)
A133V (p.Ala133Val) in CHM (P24386) 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 0.20 / 1. The record also includes population frequency data and structural context.
A133V (p.Ala133Val) variant details
- p.Ala133Val
- rs867484071
- ClinGen CA332655375
- ClinVar RCV001988165
- gnomAD rs867484071
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -0.82
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available