K71R (p.Lys71Arg) variant of NPC2 (P61916)
K71R (p.Lys71Arg) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K71R (p.Lys71Arg) variant details
- p.Lys71Arg
- rs142075589
- ClinGen CA7268167
- ClinVar RCV000335990
- ClinVar RCV000595194
- Uncertain significance
- Inborn genetic diseases; not provided; Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.33
- ESM-1b 0.41
- AlphaMissense 0.09
- CADD 18.10
- PolyPhen-2 0.36
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Niemann-Pick disease, typ)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)