K77R (p.Lys77Arg) variant of MED13L (Q71F56)
K77R (p.Lys77Arg) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K77R (p.Lys77Arg) variant details
- p.Lys77Arg
- rs142742835
- ClinGen CA6811801
- ClinVar RCV002908507
- ESP rs142742835
- Likely benign
- not provided; Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 20.80
- PolyPhen-2 0.33
- SIFT 1.00
- ClinVar: Likely benign (not provided; Dextro-looped transposition of the great arteries)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available