C21Y (p.Cys21Tyr) variant of ADAMTS13 (Q76LX8)
C21Y (p.Cys21Tyr) 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.
C21Y (p.Cys21Tyr) variant details
- p.Cys21Tyr
- gnomAD 9-133422505-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.18
- MetaLR 0.35
- MetaSVM -0.67
- CADD 13.00
- PolyPhen-2 0.26
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available