P43S (p.Pro43Ser) variant of ADAMTS13 (Q76LX8)
P43S (p.Pro43Ser) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- gnomAD 9-133423122-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.15
- MetaLR 0.58
- MetaSVM -0.02
- CADD 12.10
- PolyPhen-2 0.10
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available