V94A (p.Val94Ala) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
V94A (p.Val94Ala) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V94A (p.Val94Ala) variant details
- p.Val94Ala
- TOPMed rs1199388635
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.02
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available