P48A (p.Pro48Ala) variant of SLC34A3 (Q8N130)
P48A (p.Pro48Ala) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
P48A (p.Pro48Ala) variant details
- p.Pro48Ala
- rs1016356685
- ClinGen CA375725784
- ClinVar RCV004459185
- gnomAD rs1016356685
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- MetaLR 0.06
- MetaSVM -1.05
- CADD 14.70
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)