N41D (p.Asn41Asp) variant of SOS2 (Son of sevenless homolog 2)
N41D (p.Asn41Asp) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N41D (p.Asn41Asp) variant details
- p.Asn41Asp
- rs575983927
- ClinGen CA7177606
- ClinVar RCV001952667
- ClinVar RCV004041990
- Conflicting interpretations
- Noonan syndrome 9; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.24
- MetaLR 0.28
- MetaSVM -0.70
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome 9; Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:OROQEN population (allele frequency 0.062)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)