L23V (p.Leu23Val) variant of SLC22A1 (O15245)
L23V (p.Leu23Val) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
L23V (p.Leu23Val) variant details
- p.Leu23Val
- 1000Genomes rs34570655
- ESP rs34570655
- ExAC rs34570655
- TOPMed rs34570655
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.12
- CADD 7.07
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available