A40S (p.Ala40Ser) variant of RAD50 (DNA repair protein RAD50)
A40S (p.Ala40Ser) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- ExAC rs756353698
- gnomAD rs756353698
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.24
- MetaLR 0.07
- MetaSVM -1.13
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available