P12A (p.Pro12Ala) variant of ADAMTS13 (Q76LX8)
P12A (p.Pro12Ala) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P12A (p.Pro12Ala) variant details
- p.Pro12Ala
- gnomAD 9-133422477-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0993
- REVEL 0.04
- MetaLR 0.33
- MetaSVM -0.85
- CADD 0.03
- PolyPhen-2 0.08
- SIFT 0.88
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available