V10R (p.Val10Arg) variant of SLC47A1 (Q96FL8)
V10R (p.Val10Arg) in SLC47A1 (Q96FL8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V10R (p.Val10Arg) variant details
- p.Val10Arg
- gnomAD 17-19533966-AGTGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 21.50
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available
- Literature evidence available