A23T (p.Ala23Thr) variant of BARD1 (Q99728)
A23T (p.Ala23Thr) in BARD1 (Q99728) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- ExAC rs767698684
- gnomAD rs767698684
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.24
- CADD 17.90
- PolyPhen-2 0.12
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available