F33V (p.Phe33Val) variant of ADAMTS13 (Q76LX8)
F33V (p.Phe33Val) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
F33V (p.Phe33Val) variant details
- p.Phe33Val
- Ensembl rs1564405781
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.13
- MetaLR 0.38
- MetaSVM -0.67
- CADD 2.46
- PolyPhen-2 0.17
- SIFT 0.36
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available