R61S (p.Arg61Ser) variant of POLH (DNA polymerase eta)
R61S (p.Arg61Ser) in POLH (DNA polymerase eta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R61S (p.Arg61Ser) variant details
- p.Arg61Ser
- gnomAD 6-43583052-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 26.40
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available