S40P (p.Ser40Pro) variant of MECOM (Q03112)
S40P (p.Ser40Pro) in MECOM (Q03112) 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 0.35 / 1.
S40P (p.Ser40Pro) variant details
- p.Ser40Pro
- rs1439121848
- NCI-TCGA Cosmic COSV1015
- cosmic curated COSV10152
- gnomAD rs1439121848
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.08
- MetaLR 0.18
- MetaSVM -0.84
- SIFT 0.20
- MutPred 0.28
- UniProt: Variant assessed as somatic; moderate impact.