P84L (p.Pro84Leu) variant of ACVR1 (Activin receptor type-1)
P84L (p.Pro84Leu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P84L (p.Pro84Leu) variant details
- p.Pro84Leu
- rs775537696
- ClinGen CA1919204
- ClinVar RCV001928161
- ClinVar RCV002556364
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.59
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- 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)