D2H (p.Asp2His) variant of PALB2 (Partner and localizer of BRCA2)
D2H (p.Asp2His) in PALB2 (Partner and localizer of BRCA2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D2H (p.Asp2His) variant details
- p.Asp2His
- TOPMed rs1224301730
- gnomAD rs1224301730
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.07
- AlphaMissense 0.32
- MetaLR 0.03
- MetaSVM -1.01
- CADD 24.10
- PolyPhen-2 0.12
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available