A72T (p.Ala72Thr) variant of RAI1 (Retinoic acid-induced protein 1)
A72T (p.Ala72Thr) 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 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A72T (p.Ala72Thr) variant details
- p.Ala72Thr
- rs370671656
- ClinGen CA205889
- cosmic curated COSV55396
- ClinVar RCV000192805
- Benign/Likely benign
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0821
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.10
- MetaSVM -1.00
- CADD 0.80
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00043)
- 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)