C26G (p.Cys26Gly) variant of SLC22A1 (O15245)
C26G (p.Cys26Gly) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
C26G (p.Cys26Gly) variant details
- p.Cys26Gly
- gnomAD 6-160122011-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.48
- CADD 18.60
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available