S29C (p.Ser29Cys) variant of SLC47A1 (Q96FL8)
S29C (p.Ser29Cys) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S29C (p.Ser29Cys) variant details
- p.Ser29Cys
- gnomAD 17-19534025-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.05
- CADD 20.60
- PolyPhen-2 0.47
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available