L38P (p.Leu38Pro) variant of XRCC3 (DNA repair protein XRCC3)
L38P (p.Leu38Pro) in XRCC3 (DNA repair protein XRCC3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L38P (p.Leu38Pro) variant details
- p.Leu38Pro
- rs758434542
- ClinGen CA7366639
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available