P14R (p.Pro14Arg) variant of SLC47A1 (Q96FL8)
P14R (p.Pro14Arg) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- TOPMed rs1211450471
- gnomAD rs1211450471
- Missense
- Variant Prioritization Score for Impact Estimate 0.0469
- REVEL 0.01
- CADD 4.18
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available