L64V (p.Leu64Val) variant of MED13L (Q71F56)
L64V (p.Leu64Val) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L64V (p.Leu64Val) variant details
- p.Leu64Val
- rs2500017004
- ClinGen CA386927468
- ClinVar RCV003995159
- ClinVar RCV006631062
- Uncertain significance
- not specified; Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 20.90
- PolyPhen-2 0.23
- SIFT 0.17
- ClinVar: Uncertain significance (not specified; Dextro-looped transposition of the great arteries)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available