K152N (p.Lys152Asn) variant of MED13L (Q71F56)
K152N (p.Lys152Asn) 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 0.40 / 1. The record also includes population frequency data and structural context.
K152N (p.Lys152Asn) variant details
- p.Lys152Asn
- rs1449279155
- NCI-TCGA Cosmic COSV5611
- TOPMed rs1449279155
- gnomAD rs1449279155
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.35
- ESM-1b 0.70
- AlphaMissense 0.46
- CADD 24.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available