A40S (p.Ala40Ser) variant of ADAMTS13 (Q76LX8)
A40S (p.Ala40Ser) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- gnomAD 9-133423113-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.07
- MetaLR 0.39
- MetaSVM -0.76
- CADD 11.80
- PolyPhen-2 0.04
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available