E40K (p.Glu40Lys) variant of NLRP1 (Q9C000)
E40K (p.Glu40Lys) 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 0.22 / 1. The record also includes population frequency data.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs766538219
- ClinGen CA8327649
- NCI-TCGA Cosmic COSV9933
- cosmic curated COSV99333
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 7.74
- PolyPhen-2 0.12
- SIFT 0.76
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)