L13P (p.Leu13Pro) variant of NPC2 (P61916)
L13P (p.Leu13Pro) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; NPC2-related disorder; Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs147602717
- ClinGen CA7268216
- ClinVar RCV002015465
- ClinVar RCV005645352
- Uncertain significance
- not provided; NPC2-related disorder; Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.52
- CADD 22.80
- PolyPhen-2 0.30
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; NPC2-related disorder; Niemann-Pick disease, type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)