E92K (p.Glu92Lys) variant of ACVR1 (Activin receptor type-1)
E92K (p.Glu92Lys) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
E92K (p.Glu92Lys) variant details
- p.Glu92Lys
- rs2467966984
- ClinGen CA349193516
- ClinVar RCV003880397
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.55
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available