S48A (p.Ser48Ala) variant of ADAMTS13 (Q76LX8)
S48A (p.Ser48Ala) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S48A (p.Ser48Ala) variant details
- p.Ser48Ala
- gnomAD 9-133423137-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.08
- MetaLR 0.39
- MetaSVM -0.78
- CADD 4.99
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available