G29V (p.Gly29Val) variant of ADAMTS13 (Q76LX8)
G29V (p.Gly29Val) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G29V (p.Gly29Val) variant details
- p.Gly29Val
- gnomAD 9-133422529-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.49
- MetaLR 0.63
- MetaSVM 0.30
- CADD 22.20
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available