G61V (p.Gly61Val) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
G61V (p.Gly61Val) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
G61V (p.Gly61Val) variant details
- p.Gly61Val
- ExAC rs758791748
- TOPMed rs758791748
- gnomAD rs758791748
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.11
- CADD 22.40
- PolyPhen-2 0.16
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available