S29F (p.Ser29Phe) variant of SLC47A1 (Q96FL8)
S29F (p.Ser29Phe) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S29F (p.Ser29Phe) variant details
- p.Ser29Phe
- gnomAD rs1301627633
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.02
- CADD 16.90
- PolyPhen-2 0.14
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available