M8T (p.Met8Thr) variant of F9 (Coagulation factor IX)
M8T (p.Met8Thr) in F9 (Coagulation factor IX) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
M8T (p.Met8Thr) variant details
- p.Met8Thr
- rs770709443
- NCI-TCGA Cosmic COSV5437
- cosmic curated COSV54378
- ExAC rs770709443
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.64
- MetaLR 0.69
- MetaSVM 0.61
- CADD 22.30
- PolyPhen-2 0.28
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available