P60L (p.Pro60Leu) variant of GABRB3 (P28472)
P60L (p.Pro60Leu) in GABRB3 (P28472) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P60L (p.Pro60Leu) variant details
- p.Pro60Leu
- NCI-TCGA Cosmic COSV5466
- cosmic curated COSV54662
- gnomAD rs1891175769
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.77
- CADD 28.90
- PolyPhen-2 0.74
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available