A104V (p.Ala104Val) variant of SLC37A4 (O43826)
A104V (p.Ala104Val) in SLC37A4 (O43826) 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 0.69 / 1. The record also includes population frequency data and structural context.
A104V (p.Ala104Val) variant details
- p.Ala104Val
- gnomAD rs1238696757
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 0.19
- CADD 23.10
- PolyPhen-2 0.42
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available