S2G (p.Ser2Gly) variant of MRE11 (P49959)
S2G (p.Ser2Gly) in MRE11 (P49959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- Ensembl rs1947323316
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.16
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available