P5A (p.Pro5Ala) variant of SOS2 (Son of sevenless homolog 2)
P5A (p.Pro5Ala) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Noonan syndrome 9; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P5A (p.Pro5Ala) variant details
- p.Pro5Ala
- rs976486198
- ClinGen CA260740027
- ClinVar RCV001261117
- ClinVar RCV001880004
- Conflicting interpretations
- Noonan syndrome 9; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.23
- MetaLR 0.26
- MetaSVM -0.75
- CADD 19.20
- PolyPhen-2 0.05
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome 9; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)