S36R (p.Ser36Arg) variant of TPM1 (Tropomyosin alpha-1 chain)
S36R (p.Ser36Arg) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S36R (p.Ser36Arg) variant details
- p.Ser36Arg
- gnomAD 15-63042937-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.67
- CADD 23.80
- PolyPhen-2 0.16
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available