L122S (p.Leu122Ser) variant of ACVR1 (Activin receptor type-1)
L122S (p.Leu122Ser) 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 0.41 / 1. The record also includes population frequency data and structural context.
L122S (p.Leu122Ser) variant details
- p.Leu122Ser
- rs2467962145
- ClinGen CA349193084
- ClinVar RCV003693718
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available