S62Y (p.Ser62Tyr) variant of ADAMTS13 (Q76LX8)
S62Y (p.Ser62Tyr) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S62Y (p.Ser62Tyr) variant details
- p.Ser62Tyr
- gnomAD 9-133424333-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.10
- MetaLR 0.41
- MetaSVM -0.55
- CADD 10.50
- PolyPhen-2 0.26
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available