F23L (p.Phe23Leu) variant of MSH2 (DNA mismatch repair protein Msh2)
F23L (p.Phe23Leu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- Ensembl rs2103871174
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.58
- MetaSVM -0.12
- CADD 23.60
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available