A47T (p.Ala47Thr) variant of RAI1 (Retinoic acid-induced protein 1)
A47T (p.Ala47Thr) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- rs398124413
- ClinGen CA149325
- cosmic curated COSV10963
- ClinVar RCV000082256
- Benign/Likely benign
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- 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)