S16G (p.Ser16Gly) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S16G (p.Ser16Gly) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S16G (p.Ser16Gly) variant details
- p.Ser16Gly
- TOPMed rs1336568282
- gnomAD rs1336568282
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.43
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available