G15V (p.Gly15Val) variant of SLC22A5 (O76082)
G15V (p.Gly15Val) in SLC22A5 (O76082) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CDSP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- ExAC rs751129547
- TOPMed rs751129547
- gnomAD rs751129547
- Uncertain significance
- in CDSP
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.91
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance (in CDSP)
- UniProt: Uncertain significance (in CDSP)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available