A76V (p.Ala76Val) variant of ADAMTS13 (Q76LX8)
A76V (p.Ala76Val) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A76V (p.Ala76Val) variant details
- p.Ala76Val
- ExAC rs782302107
- gnomAD rs782302107
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.06
- MetaLR 0.27
- MetaSVM -0.85
- CADD 2.92
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available