S69N (p.Ser69Asn) variant of IL1RAPL1 (Q9NZN1)
S69N (p.Ser69Asn) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, X-linked 21. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S69N (p.Ser69Asn) variant details
- p.Ser69Asn
- rs747458852
- ClinGen CA10646104
- ClinVar RCV000335751
- ExAC rs747458852
- Uncertain significance
- Intellectual disability, X-linked 21
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.13
- CADD 21.30
- PolyPhen-2 0.07
- SIFT 0.16
- ClinVar: Uncertain significance (Intellectual disability, X-linked 21)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: NR0B1-Related Adrenal Hypoplasia Congenita. (PMID 20301604)