S34N (p.Ser34Asn) variant of RAI1 (Retinoic acid-induced protein 1)
S34N (p.Ser34Asn) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S34N (p.Ser34Asn) variant details
- p.Ser34Asn
- rs767047134
- ClinGen CA8418041
- ClinVar RCV002153652
- ClinVar RCV002363681
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 22.10
- PolyPhen-2 0.17
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00013)
- 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)