R318Q (p.Arg318Gln) variant of TUBB3 (Tubulin beta-3 chain)
R318Q (p.Arg318Gln) in TUBB3 (Tubulin beta-3 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Male infertility with azoospermia or oligozoospermia due to single gene mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R318Q (p.Arg318Gln) variant details
- p.Arg318Gln
- rs2030421919
- ClinGen CA397476100
- NCI-TCGA Cosmic COSV5924
- cosmic curated COSV59248
- Likely pathogenic
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Male infertility with azoospermia or oligozoospermia due to sing)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available