I18S (p.Ile18Ser) variant of ADAMTS13 (Q76LX8)
I18S (p.Ile18Ser) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I18S (p.Ile18Ser) variant details
- p.Ile18Ser
- gnomAD 9-133422496-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.14
- MetaLR 0.36
- MetaSVM -0.68
- CADD 14.10
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available