M35V (p.Met35Val) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
M35V (p.Met35Val) 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.
M35V (p.Met35Val) variant details
- p.Met35Val
- ExAC rs751984430
- gnomAD rs751984430
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.14
- CADD 24.80
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available