S41L (p.Ser41Leu) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
S41L (p.Ser41Leu) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S41L (p.Ser41Leu) variant details
- p.Ser41Leu
- rs768342881
- NCI-TCGA Cosmic COSV6468
- cosmic curated COSV64687
- ExAC rs768342881
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.62
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available