S31A (p.Ser31Ala) variant of ADAMTS13 (Q76LX8)
S31A (p.Ser31Ala) 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.
S31A (p.Ser31Ala) variant details
- p.Ser31Ala
- gnomAD 9-133422534-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.16
- MetaLR 0.39
- MetaSVM -0.68
- CADD 4.51
- PolyPhen-2 0.20
- SIFT 0.56
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available