H2R (p.His2Arg) variant of ADAMTS13 (Q76LX8)
H2R (p.His2Arg) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H2R (p.His2Arg) variant details
- p.His2Arg
- gnomAD 9-133422448-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.11
- MetaLR 0.22
- MetaSVM -0.88
- CADD 0.22
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available