P60H (p.Pro60His) variant of ADAMTS13 (Q76LX8)
P60H (p.Pro60His) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P60H (p.Pro60His) variant details
- p.Pro60His
- gnomAD 9-133424327-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.11
- MetaLR 0.38
- MetaSVM -0.67
- CADD 0.84
- PolyPhen-2 0.62
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available