A125V (p.Ala125Val) variant of MED13L (Q71F56)
A125V (p.Ala125Val) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
A125V (p.Ala125Val) variant details
- p.Ala125Val
- rs2500383363
- ClinVar RCV004590941
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available