R74P (p.Arg74Pro) variant of ADAMTS13 (Q76LX8)
R74P (p.Arg74Pro) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R74P (p.Arg74Pro) variant details
- p.Arg74Pro
- gnomAD 9-133424369-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.26
- MetaLR 0.55
- MetaSVM -0.37
- CADD 21.30
- PolyPhen-2 0.78
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available