I52T (p.Ile52Thr) variant of RAD50 (DNA repair protein RAD50)
I52T (p.Ile52Thr) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
I52T (p.Ile52Thr) variant details
- p.Ile52Thr
- gnomAD 5-132559309-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available