P88S (p.Pro88Ser) variant of NPC2 (P61916)
P88S (p.Pro88Ser) 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; Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P88S (p.Pro88Ser) variant details
- p.Pro88Ser
- rs2139668049
- ClinGen CA390532463
- ClinVar RCV001757977
- ClinVar RCV002032783
- Uncertain significance
- not provided; Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 23.00
- PolyPhen-2 0.19
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)