A12T (p.Ala12Thr) variant of NPC2 (P61916)
A12T (p.Ala12Thr) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- TOPMed rs970145012
- gnomAD rs970145012
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available