G38D (p.Gly38Asp) variant of SLC22A1 (O15245)
G38D (p.Gly38Asp) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G38D (p.Gly38Asp) variant details
- p.Gly38Asp
- 1000Genomes rs35888596
- ESP rs35888596
- ExAC rs35888596
- TOPMed rs35888596
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.89
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:BEDOUIN population (allele frequency 0.14)
- Structural context available