V171A (p.Val171Ala) variant of SOS1 (Son of sevenless homolog 1)
V171A (p.Val171Ala) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V171A (p.Val171Ala) variant details
- p.Val171Ala
- rs397517174
- ClinGen CA261743
- cosmic curated COSV10824
- ClinVar RCV000038562
- Likely pathogenic
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.57
- AlphaMissense 0.91
- MetaLR 0.66
- MetaSVM 0.29
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Noonan syndrome and Noonan-related syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)