M41T (p.Met41Thr) variant of RP2 (Protein XRP2)
M41T (p.Met41Thr) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
M41T (p.Met41Thr) variant details
- p.Met41Thr
- rs782356034
- ClinGen CA10394181
- ClinVar RCV001237870
- ExAC rs782356034
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.29
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available