A67T (p.Ala67Thr) variant of SOS1 (Son of sevenless homolog 1)
A67T (p.Ala67Thr) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Noonan syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A67T (p.Ala67Thr) variant details
- p.Ala67Thr
- rs730881053
- ClinGen CA297295
- ClinVar RCV000159186
- ClinVar RCV001309736
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Noonan syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.29
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Noonan syndrome 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)