S29L (p.Ser29Leu) variant of SLC22A1 (O15245)
S29L (p.Ser29Leu) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S29L (p.Ser29Leu) variant details
- p.Ser29Leu
- cosmic curated COSV61454
- ExAC rs375175439
- TOPMed rs375175439
- gnomAD rs375175439
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.52
- CADD 22.70
- PolyPhen-2 0.73
- SIFT 0.04
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available