P7S (p.Pro7Ser) variant of SLC6A19 (Q695T7)
P7S (p.Pro7Ser) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neutral 1 amino acid transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- TOPMed rs1300763596
- gnomAD rs1300763596
- Uncertain significance
- Neutral 1 amino acid transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.20
- PolyPhen-2 0.49
- SIFT 0.04
- ClinVar: Uncertain significance (Neutral 1 amino acid transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available