A3V (p.Ala3Val) variant of SLC47A1 (Q96FL8)
A3V (p.Ala3Val) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD rs1418027645
- Missense
- Variant Prioritization Score for Impact Estimate 0.0852
- REVEL 0.04
- CADD 3.87
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available