P31L (p.Pro31Leu) variant of GABRB3 (P28472)
P31L (p.Pro31Leu) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- cosmic curated COSV54653
- TOPMed rs1891188202
- gnomAD rs1891188202
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.56
- CADD 24.60
- PolyPhen-2 0.10
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available