P30S (p.Pro30Ser) variant of ADAMTS13 (Q76LX8)
P30S (p.Pro30Ser) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- gnomAD rs1554783675
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.06
- MetaLR 0.31
- MetaSVM -0.84
- CADD 6.28
- PolyPhen-2 0.07
- SIFT 0.55
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available