P2L (p.Pro2Leu) variant of SLC34A3 (Q8N130)
P2L (p.Pro2Leu) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- rs566626846
- ClinGen CA5364162
- ClinVar RCV002633096
- 1000Genomes rs566626846
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- MetaLR 0.06
- MetaSVM -1.02
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.01)