N36D (p.Asn36Asp) variant of MED13L (Q71F56)
N36D (p.Asn36Asp) 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 0.32 / 1. The record also includes population frequency data and structural context.
N36D (p.Asn36Asp) variant details
- p.Asn36Asp
- rs759751651
- ClinGen CA6811821
- ClinVar RCV003856246
- ExAC rs759751651
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (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 6.5e-05)
- Structural context available