A2V (p.Ala2Val) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
A2V (p.Ala2Val) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- cosmic curated COSV64687
- ExAC rs769133844
- TOPMed rs769133844
- gnomAD rs769133844
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.21
- CADD 24.20
- PolyPhen-2 0.20
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available