S23L (p.Ser23Leu) variant of XPA (P23025)
S23L (p.Ser23Leu) in XPA (P23025) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S23L (p.Ser23Leu) variant details
- p.Ser23Leu
- rs1179193179
- NCI-TCGA Cosmic COSV1009
- TOPMed rs1179193179
- gnomAD rs1179193179
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.11
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.06
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available