A70S (p.Ala70Ser) variant of NLRP1 (Q9C000)
A70S (p.Ala70Ser) in NLRP1 (Q9C000) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
A70S (p.Ala70Ser) variant details
- p.Ala70Ser
- cosmic curated COSV10805
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 19.70
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 6.3e-05)