T126S (p.Thr126Ser) variant of NPC1 (O15118)
T126S (p.Thr126Ser) in NPC1 (O15118) is a missense change. Clinical records from ClinVar 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 0.38 / 1. The record also includes population frequency data and structural context.
T126S (p.Thr126Ser) variant details
- p.Thr126Ser
- NCI-TCGA TCGA novel
- TOPMed rs1269273156
- gnomAD rs1269273156
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.30
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available