A36V (p.Ala36Val) variant of XPC (Q01831)
A36V (p.Ala36Val) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- TOPMed rs1331120157
- gnomAD rs1331120157
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.12
- CADD 5.75
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available