A73V (p.Ala73Val) variant of CARD11 (Q9BXL7)
A73V (p.Ala73Val) in CARD11 (Q9BXL7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- TOPMed rs950377099
- gnomAD rs950377099
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.17
- CADD 33.00
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available