N17D (p.Asn17Asp) variant of MLH1 (DNA mismatch repair protein Mlh1)
N17D (p.Asn17Asp) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
N17D (p.Asn17Asp) variant details
- p.Asn17Asp
- Ensembl rs2125693995
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available