S18T (p.Ser18Thr) variant of ACVR1 (Activin receptor type-1)
S18T (p.Ser18Thr) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- rs745444504
- ClinGen CA1919256
- ClinVar RCV003719693
- ClinVar RCV005794593
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.23
- CADD 19.60
- PolyPhen-2 0.05
- SIFT 0.22
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)