V48A (p.Val48Ala) variant of SOS1 (Son of sevenless homolog 1)
V48A (p.Val48Ala) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V48A (p.Val48Ala) variant details
- p.Val48Ala
- rs373898570
- ClinGen CA234979
- cosmic curated COSV10121
- ClinVar RCV000153987
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.76
- CADD 25.50
- PolyPhen-2 0.48
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)