A63T (p.Ala63Thr) variant of RAI1 (Retinoic acid-induced protein 1)
A63T (p.Ala63Thr) 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 not provided; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
A63T (p.Ala63Thr) variant details
- p.Ala63Thr
- rs758424396
- ClinGen CA8418068
- cosmic curated COSV55397
- ClinVar RCV001530850
- Benign/Likely benign
- not provided; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0703
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 6.86
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Benign/Likely benign (not provided; Inborn genetic diseases; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)