L14P (p.Leu14Pro) variant of XRCC2 (DNA repair protein XRCC2)
L14P (p.Leu14Pro) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- rs757140620
- ClinGen CA4582418
- ClinVar RCV001280534
- ClinVar RCV001280535
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.67
- MetaLR 0.42
- MetaSVM -0.14
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Pathogenic (in SPGF50 and POF17)
- UniProt: Pathogenic (in SPGF50 and POF17)
- Most common in the HGDP:TU population (allele frequency 0.05)
- Structural context available
- Cited in: XRCC2 mutation causes meiotic arrest, azoospermia and infertility. (PMID 30042186)
- Cited in: XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans. (PMID 30489636)