A16V (p.Ala16Val) variant of SLC47A1 (Q96FL8)
A16V (p.Ala16Val) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- cosmic curated COSV54499
- TOPMed rs1177605964
- gnomAD rs1177605964
- Missense
- Variant Prioritization Score for Impact Estimate 0.0765
- REVEL 0.03
- CADD 11.20
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available