K40R (p.Lys40Arg) variant of TBX20 (T-box transcription factor TBX20)
K40R (p.Lys40Arg) in TBX20 (T-box transcription factor TBX20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- ExAC rs774382309
- gnomAD rs774382309
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.18
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available