F31V (p.Phe31Val) variant of SLC47A1 (Q96FL8)
F31V (p.Phe31Val) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
F31V (p.Phe31Val) variant details
- p.Phe31Val
- gnomAD 17-19534030-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.04
- CADD 18.10
- PolyPhen-2 0.06
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Literature evidence available