S4R (p.Ser4Arg) variant of BRCA1 (P38398)
S4R (p.Ser4Arg) in BRCA1 (P38398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- gnomAD 17-43050081-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 8.27
- Population evidence available
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -1.2
- Literature evidence available