V10L (p.Val10Leu) variant of SLC47A1 (Q96FL8)
V10L (p.Val10Leu) in SLC47A1 (Q96FL8) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
V10L (p.Val10Leu) variant details
- p.Val10Leu
- rs555657341
- cosmic curated COSV54500
- 1000Genomes rs555657341
- ExAC rs555657341
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0816
- REVEL 0.04
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available
- Cited in: Identification of multidrug and toxin extrusion (MATE1 and MATE2-K) variants with complete loss of transport activity. (PMID 19158817)