M50V (p.Met50Val) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
M50V (p.Met50Val) in PARP2 (Poly [ADP-ribose] polymerase 2) 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, published literature, and structural context.
M50V (p.Met50Val) variant details
- p.Met50Val
- rs527404505
- gnomAD 14-20345033-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.03
- AlphaMissense 0.13
- MetaLR 0.15
- MetaSVM -0.70
- CADD 14.40
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available