R9P (p.Arg9Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
R9P (p.Arg9Pro) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R9P (p.Arg9Pro) variant details
- p.Arg9Pro
- gnomAD rs1274810165
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available