A7V (p.Ala7Val) variant of SLC18A2 (Q05940)
A7V (p.Ala7Val) in SLC18A2 (Q05940) 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 0.54 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs1249762406
- ClinGen CA378507209
- cosmic curated COSV53693
- ClinVar RCV002599553
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available