A75S (p.Ala75Ser) variant of ADAMTS13 (Q76LX8)
A75S (p.Ala75Ser) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A75S (p.Ala75Ser) variant details
- p.Ala75Ser
- gnomAD 9-133424371-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.09
- MetaLR 0.35
- MetaSVM -0.54
- CADD 15.00
- PolyPhen-2 0.36
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available