G52V (p.Gly52Val) variant of TPM1 (Tropomyosin alpha-1 chain)
G52V (p.Gly52Val) in TPM1 (Tropomyosin alpha-1 chain) 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.
G52V (p.Gly52Val) variant details
- p.Gly52Val
- ExAC rs757460987
- gnomAD rs757460987
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.33
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available