L78V (p.Leu78Val) variant of NPC2 (P61916)
L78V (p.Leu78Val) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L78V (p.Leu78Val) variant details
- p.Leu78Val
- rs2506104611
- ClinGen CA390532522
- ClinVar RCV002781030
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 0.01
- PolyPhen-2 0.06
- SIFT 0.56
- 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)