V14A (p.Val14Ala) variant of BRCA1 (P38398)
V14A (p.Val14Ala) in BRCA1 (P38398) 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 0.58 / 1. The record also includes experimental measurements, published literature, and structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- rs2055732014
- ClinGen CA10602076
- ClinVar RCV001072360
- ClinVar RCV001683731
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- ESM-1b 0.56
- AlphaMissense 0.65
- MetaLR 0.48
- MetaSVM -0.01
- CADD 24.60
- EVE 0.85
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 E3: score -1.6
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)