F31S (p.Phe31Ser) variant of SLC47A1 (Q96FL8)
F31S (p.Phe31Ser) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
F31S (p.Phe31Ser) variant details
- p.Phe31Ser
- gnomAD 17-19534031-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available