A45T (p.Ala45Thr) variant of ADAMTS13 (Q76LX8)
A45T (p.Ala45Thr) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- gnomAD 9-133423128-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.11
- MetaLR 0.30
- MetaSVM -0.80
- CADD 9.58
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available