G106R (p.Gly106Arg) variant of NLRP1 (Q9C000)
G106R (p.Gly106Arg) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Respiratory papillomatosis, juvenile recurrent, congenital; Vitil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
G106R (p.Gly106Arg) variant details
- p.Gly106Arg
- rs72827640
- ClinGen CA8327606
- cosmic curated COSV10728
- ClinVar RCV000949999
- Benign/Likely benign
- not specified; Respiratory papillomatosis, juvenile recurrent, congenital; Vitil
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- CADD 6.60
- PolyPhen-2 0.04
- SIFT 0.15
- ClinVar: Benign/Likely benign (not specified; Respiratory papillomatosis, juvenile recurrent, c)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CEU population (allele frequency 0.0084)