R21S (p.Arg21Ser) variant of SLC47A1 (Q96FL8)
R21S (p.Arg21Ser) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- gnomAD 17-19534000-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.04
- CADD 17.10
- PolyPhen-2 0.14
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available