Q3K (p.Gln3Lys) variant of ADAMTS13 (Q76LX8)
Q3K (p.Gln3Lys) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
Q3K (p.Gln3Lys) variant details
- p.Gln3Lys
- ExAC rs782300973
- gnomAD rs782300973
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.08
- MetaLR 0.35
- MetaSVM -0.70
- CADD 0.46
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available