N111K (p.Asn111Lys) variant of NPC2 (P61916)
N111K (p.Asn111Lys) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
N111K (p.Asn111Lys) variant details
- p.Asn111Lys
- rs757377148
- ClinGen CA7268147
- ClinVar RCV000665380
- ExAC rs757377148
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 23.40
- PolyPhen-2 0.88
- SIFT 0.01
- 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 8.8e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)