P12S (p.Pro12Ser) variant of ADAMTS13 (Q76LX8)
P12S (p.Pro12Ser) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- rs1446552024
- ClinGen CA375706670
- cosmic curated COSV10527
- ClinVar RCV002614673
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.09
- MetaLR 0.32
- MetaSVM -0.81
- CADD 0.03
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available