V10E (p.Val10Glu) variant of SLC47A1 (Q96FL8)
V10E (p.Val10Glu) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
V10E (p.Val10Glu) variant details
- p.Val10Glu
- gnomAD 17-19533968-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0396
- REVEL 0.01
- CADD 1.22
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available