A3T (p.Ala3Thr) variant of MED13L (Q71F56)
A3T (p.Ala3Thr) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs2500191685
- ClinGen CA386928001
- ClinVar RCV003498928
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.63
- ClinVar: Uncertain significance (Dextro-looped transposition of the great arteries)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available