T83N (p.Thr83Asn) variant of ACVR1 (Activin receptor type-1)
T83N (p.Thr83Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T83N (p.Thr83Asn) variant details
- p.Thr83Asn
- rs2467967165
- ClinGen CA349193622
- ClinVar RCV003838468
- ClinVar RCV006307464
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.62
- CADD 23.80
- PolyPhen-2 0.76
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- 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)