A19V (p.Ala19Val) variant of NPC2 (P61916)
A19V (p.Ala19Val) in NPC2 (P61916) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- ESP rs369392502
- ExAC rs369392502
- TOPMed rs369392502
- gnomAD rs369392502
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.64
- ESM-1b 0.03
- AlphaMissense 0.56
- CADD 27.80
- PolyPhen-2 0.94
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available