M32V (p.Met32Val) variant of TBP (TATA-box-binding protein)
M32V (p.Met32Val) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
M32V (p.Met32Val) variant details
- p.Met32Val
- gnomAD 6-170561830-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.34
- CADD 21.20
- PolyPhen-2 0.45
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available