M7R (p.Met7Arg) variant of RAD50 (DNA repair protein RAD50)
M7R (p.Met7Arg) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
M7R (p.Met7Arg) variant details
- p.Met7Arg
- gnomAD 5-132557344-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available