P30L (p.Pro30Leu) variant of ADAMTS13 (Q76LX8)
P30L (p.Pro30Leu) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- gnomAD rs1554783678
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.08
- MetaLR 0.19
- MetaSVM -0.94
- CADD 2.04
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available