P16T (p.Pro16Thr) variant of GABRB3 (P28472)
P16T (p.Pro16Thr) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P16T (p.Pro16Thr) variant details
- p.Pro16Thr
- gnomAD rs1242309134
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.24
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.30
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available