S13N (p.Ser13Asn) variant of RIT1 (GTP-binding protein Rit1)
S13N (p.Ser13Asn) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; Noonan sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S13N (p.Ser13Asn) variant details
- p.Ser13Asn
- rs145034964
- ClinGen CA1151908
- ClinVar RCV001697491
- ClinVar RCV001813519
- Conflicting interpretations
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; Noonan sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.04
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00036)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)