M182V (p.Met182Val) variant of RAD21 (O60216)
M182V (p.Met182Val) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
M182V (p.Met182Val) variant details
- p.Met182Val
- ExAC rs774348326
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.07
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the South Asian population (allele frequency 4.6e-05)