V60M (p.Val60Met) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
V60M (p.Val60Met) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V60M (p.Val60Met) variant details
- p.Val60Met
- ExAC rs778130497
- gnomAD rs778130497
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.04
- CADD 19.90
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available