P30S (p.Pro30Ser) variant of RAD50 (DNA repair protein RAD50)
P30S (p.Pro30Ser) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs1321131254
- ClinGen CA360951557
- ClinVar RCV001018480
- gnomAD rs1321131254
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- AlphaMissense 0.94
- MetaLR 0.05
- MetaSVM -1.23
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:NORTHERNHAN population (allele frequency 0.05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)