V209I (p.Val209Ile) variant of MED13L (Q71F56)
V209I (p.Val209Ile) in MED13L (Q71F56) 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 0.57 / 1. The record also includes population frequency data and structural context.
V209I (p.Val209Ile) variant details
- p.Val209Ile
- rs1201515238
- NCI-TCGA Cosmic COSV5612
- NCI-TCGA Cosmic COSV9992
- gnomAD rs1201515238
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 34.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available