V11I (p.Val11Ile) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
V11I (p.Val11Ile) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V11I (p.Val11Ile) variant details
- p.Val11Ile
- TOPMed rs1488383078
- gnomAD rs1488383078
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.10
- CADD 24.10
- PolyPhen-2 0.28
- SIFT 0.03
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available