S49G (p.Ser49Gly) variant of NLRP1 (Q9C000)
S49G (p.Ser49Gly) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
S49G (p.Ser49Gly) variant details
- p.Ser49Gly
- rs199880477
- ClinGen CA287293523
- cosmic curated COSV52580
- ClinVar RCV001875220
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0827
- CADD 2.12
- PolyPhen-2 0.01
- SIFT 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)