P21Q (p.Pro21Gln) variant of NPC2 (P61916)
P21Q (p.Pro21Gln) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P21Q (p.Pro21Gln) variant details
- p.Pro21Gln
- rs776749539
- ClinGen CA390376677
- ClinVar RCV003083950
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 25.90
- PolyPhen-2 0.87
- SIFT 0.07
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)