Q72R (p.Gln72Arg) variant of ADAMTS13 (Q76LX8)
Q72R (p.Gln72Arg) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q72R (p.Gln72Arg) variant details
- p.Gln72Arg
- gnomAD 9-133424363-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.06
- MetaLR 0.26
- MetaSVM -0.85
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available