F71L (p.Phe71Leu) variant of ACVR1 (Activin receptor type-1)
F71L (p.Phe71Leu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
F71L (p.Phe71Leu) variant details
- p.Phe71Leu
- rs2467967384
- ClinGen CA349193754
- ClinVar RCV002818008
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.30
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.69
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)