M145L (p.Met145Leu) variant of RAD21 (O60216)
M145L (p.Met145Leu) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
M145L (p.Met145Leu) variant details
- p.Met145Leu
- gnomAD rs1360712011
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.18
- CADD 22.10
- PolyPhen-2 0.13
- SIFT 0.35
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)