L144V (p.Leu144Val) variant of STAT3 (P40763)
L144V (p.Leu144Val) in STAT3 (P40763) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L144V (p.Leu144Val) variant details
- p.Leu144Val
- ExAC rs761693018
- TOPMed rs761693018
- gnomAD rs761693018
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.22
- CADD 21.00
- PolyPhen-2 0.06
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available