S29P (p.Ser29Pro) variant of SLC22A1 (O15245)
S29P (p.Ser29Pro) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S29P (p.Ser29Pro) variant details
- p.Ser29Pro
- gnomAD 6-160122020-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.58
- CADD 20.20
- PolyPhen-2 0.18
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available