N217T (p.Asn217Thr) variant of MED13L (Q71F56)
N217T (p.Asn217Thr) 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 0.38 / 1. The record also includes population frequency data and structural context.
N217T (p.Asn217Thr) variant details
- p.Asn217Thr
- rs772021396
- ClinGen CA6811604
- ClinVar RCV000238637
- ClinVar RCV003603045
- Uncertain significance
- not specified; Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.50
- PolyPhen-2 0.25
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Dextro-looped transposition of the great arteries)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available