I9T (p.Ile9Thr) variant of RAD50 (DNA repair protein RAD50)
I9T (p.Ile9Thr) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I9T (p.Ile9Thr) variant details
- p.Ile9Thr
- gnomAD 5-132557350-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 24.90
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available