M37K (p.Met37Lys) variant of XPA (P23025)
M37K (p.Met37Lys) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
M37K (p.Met37Lys) variant details
- p.Met37Lys
- rs1479271208
- ClinGen CA374188460
- ClinVar RCV003237458
- gnomAD rs1479271208
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.30
- CADD 25.20
- PolyPhen-2 0.63
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available