A75G (p.Ala75Gly) variant of ADAMTS13 (Q76LX8)
A75G (p.Ala75Gly) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A75G (p.Ala75Gly) variant details
- p.Ala75Gly
- ESP rs142366230
- ExAC rs142366230
- TOPMed rs142366230
- gnomAD rs142366230
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.10
- MetaLR 0.35
- MetaSVM -0.65
- CADD 16.30
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available