N70S (p.Asn70Ser) variant of NPC1 (O15118)
N70S (p.Asn70Ser) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N70S (p.Asn70Ser) variant details
- p.Asn70Ser
- rs200291759
- ClinGen CA8913792
- ClinVar RCV000731921
- ClinVar RCV001369012
- Uncertain significance
- not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.28
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)