L8F (p.Leu8Phe) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
L8F (p.Leu8Phe) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- gnomAD rs1341567065
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.11
- CADD 24.80
- PolyPhen-2 0.46
- SIFT 0.21
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available