P38S (p.Pro38Ser) variant of MYLK (Q15746)
P38S (p.Pro38Ser) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- TOPMed rs1450674131
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.10
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available