A76P (p.Ala76Pro) variant of ADAMTS13 (Q76LX8)
A76P (p.Ala76Pro) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A76P (p.Ala76Pro) variant details
- p.Ala76Pro
- gnomAD 9-133424374-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.20
- MetaLR 0.46
- MetaSVM -0.51
- CADD 11.80
- PolyPhen-2 0.47
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available