M12T (p.Met12Thr) variant of ACVRL1 (Activin receptor type-1-like)
M12T (p.Met12Thr) in ACVRL1 (Activin receptor type-1-like) 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.
M12T (p.Met12Thr) variant details
- p.Met12Thr
- TOPMed rs1940713187
- gnomAD rs1940713187
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.27
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available