P34S (p.Pro34Ser) variant of HRAS (GTPase HRas)
P34S (p.Pro34Ser) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- rs1348427922
- ClinGen CA378924962
- cosmic curated COSV54246
- ClinVar RCV000662272
- Uncertain significance
- Cardiovascular phenotype; Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.77
- AlphaMissense 1.00
- MetaLR 0.50
- MetaSVM 0.12
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Costello syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available