L14V (p.Leu14Val) variant of MED13L (Q71F56)
L14V (p.Leu14Val) in MED13L (Q71F56) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- ESP rs148454293
- ExAC rs148454293
- TOPMed rs148454293
- gnomAD rs148454293
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.59
- CADD 19.40
- PolyPhen-2 0.12
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available