A28T (p.Ala28Thr) variant of IL1RAPL1 (Q9NZN1)
A28T (p.Ala28Thr) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Intellectual disability, X-linked 21. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- rs377167082
- ClinGen CA10375360
- NCI-TCGA Cosmic COSV5627
- ClinVar RCV003133700
- Conflicting interpretations
- not provided; Intellectual disability, X-linked 21
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.18
- CADD 26.40
- PolyPhen-2 0.08
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (not provided; Intellectual disability, X-linked 21)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: NR0B1-Related Adrenal Hypoplasia Congenita. (PMID 20301604)