A8P (p.Ala8Pro) variant of SLC47A1 (Q96FL8)
A8P (p.Ala8Pro) 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, published literature, and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- gnomAD 17-19533961-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.02
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available