L135S (p.Leu135Ser) variant of RAD21 (O60216)
L135S (p.Leu135Ser) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
L135S (p.Leu135Ser) variant details
- p.Leu135Ser
- ExAC rs771053519
- gnomAD rs771053519
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.45
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)