P61A (p.Pro61Ala) variant of ADAMTS13 (Q76LX8)
P61A (p.Pro61Ala) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P61A (p.Pro61Ala) variant details
- p.Pro61Ala
- ExAC rs782680569
- gnomAD rs782680569
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.07
- MetaLR 0.32
- MetaSVM -0.72
- CADD 5.80
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available