A3T (p.Ala3Thr) variant of NPC1 (O15118)
A3T (p.Ala3Thr) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs752896980
- ClinGen CA8913845
- ClinVar RCV000671931
- ClinVar RCV000728695
- Uncertain significance
- not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.54
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)