A31S (p.Ala31Ser) variant of TBX5 (T-box transcription factor TBX5)
A31S (p.Ala31Ser) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- cosmic curated COSV59863
- gnomAD rs1300164371
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.19
- CADD 4.25
- PolyPhen-2 0.01
- SIFT 0.75
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available