A20V (p.Ala20Val) variant of ADAMTS13 (Q76LX8)
A20V (p.Ala20Val) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.07
- MetaLR 0.36
- MetaSVM -0.68
- CADD 9.71
- PolyPhen-2 0.04
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available