P7R (p.Pro7Arg) variant of SOS2 (Son of sevenless homolog 2)
P7R (p.Pro7Arg) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Noonan syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- rs755419078
- ClinGen CA7177663
- ClinVar RCV003756542
- ExAC rs755419078
- Likely benign
- Noonan syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.17
- MetaLR 0.39
- MetaSVM -0.72
- CADD 20.00
- PolyPhen-2 0.04
- SIFT 0.26
- ClinVar: Likely benign (Noonan syndrome 9)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)