V30M (p.Val30Met) variant of NPC2 (P61916)
V30M (p.Val30Met) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V30M (p.Val30Met) variant details
- p.Val30Met
- rs151220873
- ClinGen CA249909
- cosmic curated COSV99467
- ClinVar RCV000162102
- Benign/Likely benign
- not specified; not provided; Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 11.00
- PolyPhen-2 0.67
- SIFT 0.11
- ClinVar: Benign/Likely benign (not specified; not provided; Niemann-Pick disease, type C2)
- EBI: Pathogenic (in NPC2)
- UniProt: Pathogenic (in NPC2)
- Most common in the HGDP:BALOCHI population (allele frequency 0.065)
- Structural context available
- Cited in: Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and… (PMID 12955717)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)