W28C (p.Trp28Cys) variant of ADAMTS13 (Q76LX8)
W28C (p.Trp28Cys) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
W28C (p.Trp28Cys) variant details
- p.Trp28Cys
- gnomAD 9-133422527-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.37
- MetaLR 0.50
- MetaSVM -0.36
- CADD 15.70
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available