P43L (p.Pro43Leu) variant of ADAMTS13 (Q76LX8)
P43L (p.Pro43Leu) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- Ensembl rs999352582
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.21
- MetaLR 0.53
- MetaSVM -0.22
- CADD 18.70
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available