F65L (p.Phe65Leu) variant of ADAMTS13 (Q76LX8)
F65L (p.Phe65Leu) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
F65L (p.Phe65Leu) variant details
- p.Phe65Leu
- ExAC rs782453359
- gnomAD rs782453359
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.07
- MetaLR 0.26
- MetaSVM -0.89
- CADD 6.63
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available