N36S (p.Asn36Ser) variant of MED13L (Q71F56)
N36S (p.Asn36Ser) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified; Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
N36S (p.Asn36Ser) variant details
- p.Asn36Ser
- rs370115918
- ClinGen CA6811820
- ClinVar RCV002681242
- ClinVar RCV005433866
- Benign/Likely benign
- not provided; not specified; Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Benign/Likely benign (not provided; not specified; Dextro-looped transposition of the)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available