A89V (p.Ala89Val) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
A89V (p.Ala89Val) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A89V (p.Ala89Val) variant details
- p.Ala89Val
- cosmic curated COSV10747
- Ensembl rs1558243852
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.10
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available