L16M (p.Leu16Met) variant of XPC (Q01831)
L16M (p.Leu16Met) in XPC (Q01831) 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 0.06 / 1. The record also includes population frequency data and structural context.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- 1000Genomes rs1870134
- ESP rs1870134
- ExAC rs1870134
- TOPMed rs1870134
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0637
- REVEL 0.07
- CADD 0.81
- PolyPhen-2 0.05
- SIFT 0.07
- EBI: Benign (in dbSNP:rs1870134)
- UniProt: Benign (in dbSNP:rs1870134)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available