P50L (p.Pro50Leu) variant of SLC26A2 (Sulfate transporter)
P50L (p.Pro50Leu) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphyseal dysplasia t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- rs1755018969
- ClinGen CA361704162
- ClinVar RCV001296270
- Ensembl rs1755018969
- Uncertain significance
- Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphyseal dysplasia t
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 1.69
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)