S4P (p.Ser4Pro) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S4P (p.Ser4Pro) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- TOPMed rs1339302801
- gnomAD rs1339302801
- Missense
- Variant Prioritization Score for Impact Estimate 0.0953
- REVEL 0.02
- CADD 18.20
- PolyPhen-2 0.09
- SIFT 0.35
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available