P42R (p.Pro42Arg) variant of SLC30A8 (Q8IWU4)
P42R (p.Pro42Arg) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P42R (p.Pro42Arg) variant details
- p.Pro42Arg
- Ensembl rs2130965851
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.16
- CADD 14.90
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available