S4G (p.Ser4Gly) variant of BRCA1 (P38398)
S4G (p.Ser4Gly) in BRCA1 (P38398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S4G (p.Ser4Gly) variant details
- p.Ser4Gly
- gnomAD 17-43050089-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- ESM-1b 0.65
- AlphaMissense 0.16
- CADD 10.16
- Population evidence available
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -1.2
- Literature evidence available