N64T (p.Asn64Thr) variant of NPC2 (P61916)
N64T (p.Asn64Thr) 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 0.12 / 1. The record also includes population frequency data and structural context.
N64T (p.Asn64Thr) variant details
- p.Asn64Thr
- TOPMed rs1391222276
- gnomAD rs1391222276
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 7.34
- PolyPhen-2 0.01
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available