I25N (p.Ile25Asn) variant of RAD50 (DNA repair protein RAD50)
I25N (p.Ile25Asn) 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.
I25N (p.Ile25Asn) variant details
- p.Ile25Asn
- gnomAD 5-132557398-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available